Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000350844 Individual ID 00465287 Associated disease GIDID Phenotype details Intestinal atresia (HP:0011100), Dependency on parenteral nutrition (HP:0033994), Combined immunodeficiency (HP:0005387), Anemia (HP:0001903), Abnormal heart morphology (HP:0001627) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Frederike Leonie Harms Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Frederike Leonie Harms Date created 2025-05-06 10:35:15 +02:00 (CEST) Date last edited 2025-05-09 11:03:32 +02:00 (CEST)

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